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Biomedical subjects

V Leuzzi

Publications and source records attributed to V Leuzzi.

9 recordsLinked to original sources
PubMed1992

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.

Adult↗
PubMed1991

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

Adolescent↗
PubMed1987

Hyperargininaemia.

Explore the source record for details and available documents.

Amino Acid Metabolism, Inborn Errors↗
PubMed1987

Mental outcome in West syndrome: prognostic value of some clinical factors.

Fifty-eight cases of West syndrome (eight idiopathic, 50 secondary) have been followed-up for a mean period of 5 years 5 months. The relationship has been studied between intellectual status at the final follow-up and the following variables: etiology, age of onset, neurological examination and developmental assessment at the onset, CT scan findings, short-term effect of ACTH treatment, and age of acquiring four developmental milestones (sitting unsupported, walking unsupported, uttering the first specific word and using a sentence of two words). Developmental and/or neurological abnormalities before the onset of the spasms, symptomatic etiology and abnormal CT findings are associated with a low IQ at the final follow-up. The age for sitting unsupported and for walking unsupported has proved to be not predictive of intellectual outcome, but the speech development data have shown a highly significant relationship with intellectual development. Early identification of the children with mental retardation has turned out to be superior to prediction of normal mental outcome.

Adrenocorticotropic Hormone↗
PubMedDate not supplied

The development of auditory and visual evoked potentials in early treated phenylketonuric children.

Brain-stem auditory evoked potentials (BAEPs) and flash visual evoked potentials (F-VEPs) were gathered from 8 early treated phenylketonuric (PKU) children in a prospective longitudinal investigation during the 1st to the 12th months after birth. No consistent differences were found in the wave morphology of evoked potentials in PKU children from that of age-matched controls. Studying the latency of some components showed that in BAEPs, wave I latency was similar to control values for the whole year, but that the I-V interpeak mean latency (I-V IPL) was always significantly longer than in controls. In F-VEPs wave N1 latency was significantly longer than in controls only at 1-2 months of age, but returned to control values at 3-4 months (when all children were on dietary therapy) and remained in this range up to the 12th month. The mean latency of the P2 wave of flash VEPs was always significantly longer in PKU children than in controls. These results show that relevant alterations in evoked potentials may be found in PKU children several months after starting dietary therapy. This suggests that information processing in the brain may be impaired for a long time, due to abnormal metabolic conditions between birth and the onset of dietary therapy.

Brain↗